Associated Papers
From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.
Daşar T et al.
American Journal of Medical Genetics. Part A, 2025
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
Piwar H et al.
International Journal of Molecular Sciences, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Desbuquois dysplasia Kim variant: a rare case report syndrome.
Agrawal N et al.
Clinical Dysmorphology, 2021
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
Rice L et al.
Journal of Clinical Immunology, 2019
MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.
Balasubramanian K et al.
American Journal of Medical Genetics. Part A, 2017
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
Singh A et al.
European Journal of Medical Genetics, 2015
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
Laccone F et al.
European Journal of Human Genetics : Ejhg, 2011
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
Dai J et al.
Journal of Human Genetics, 2011
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T et al.
Journal of Medical Genetics, 2011
A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.
Ohya A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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